Pediatría
Departamento
University of Sydney
Sídney, AustraliaPublicaciones en colaboración con investigadoras/es de University of Sydney (4)
2020
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Genetic and phenotypic spectrum associated with IFIH1 gain-of-function
Human Mutation, Vol. 41, Núm. 4, pp. 837-849
2019
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International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria
Molecular Genetics and Metabolism, Vol. 127, Núm. 1, pp. 1-11
2018
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ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents
Pediatric Diabetes, Vol. 19, pp. 47-63